COL17A1

collagen type XVII alpha 1 chain
OMIM: 113811, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green COL17A1 in Corneal Dystrophy Level 2: Ophthalmological disorders Version 1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epithelial recurrent erosion dystrophy, MIM# 122400
Green COL17A1 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.20	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, localisata variant, MIM# 226650 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epithelial recurrent erosion dystrophy, MIM# 122400
Green COL17A1 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional 4, intermediate MIM#619787 Epithelial recurrent erosion dystrophy MIM#122400 Amelogenesis imperfecta MONDO:0019507, COL17A1-related
Green COL17A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Green COL17A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type
Green COL17A1 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting) Amelogenesis imperfecta MONDO:0019507, COL17A1-related
Green COL17A1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
Red COL17A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epidermolysis bullosa, junctional 4, intermediate MIM#619787
Green COL17A1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)